Please Help to interpret my 6 year olds 23andme results, lots of mutations!!

My son is autistic, struggles with self-control, behaviour, thinking before acting, social skills, etc. he also has a rare genetic condition called Ectodermal Dysplasia. He has been on gaps diet for 18 months, the first year mainly early intro of boiled meat, veg and stock. We've been down to one meat and veg thinking it could be food related, took out all orange veg, did NAET therapy, homeopathy, CEASE therapy for vaccines, Bowen therapy, cranial osteopathy. He's taken all the recommended supplements and advice on great products food off other gaps parents. DE, clay, GAPS shakes, ox bile, ovex, sach Boulardii, HCL, digestive enzymes. I'm at a total loss. I don't want to give up on my beautiful little boy trapped inside. And I'm so worried my youngest son is following his path.

Has he tried B12? MTRR A66G +/+ means he's very bad at recycling one form of it, and supplementing it might help.

Due to slow COMT, VDR, and MAOA (which use up methyl groups) he might not tolerate additional methyl groups very well and HydroxoB12 could work better for him than MethylB12. HydroxoB12 is also less risky, since methylB12 can cause serious potassium complications, which might be especially hard to detect in time with a young child who is also autistic.

Thank you for your reply. I haven't tried B12, mainly because gaps practitioner wasn't sure how well he would deal with B vitamins and because he has no B vitamins that are within the normal range and B12 wasn't the worst one. His most desperate needed B vits were B1 and B2, followed closely by B6, followed by B12 and B9 and then B7 and B3.

Glad to know which is the best B12 supplement to use though. Would you recommend trying this first? Or trying to find suitable ones that will help his other B vits? Is there one that suits a multi B vitamin? Is there anything I should avoid food wise or supplement wise? I'm so confused whether his strict gaps diet is good or bad for him.

Glad to know which is the best B12 supplement to use though. Would you recommend trying this first? Or trying to find suitable ones that will help his other B vits? Is there one that suits a multi B vitamin? Is there anything I should avoid food wise or supplement wise? I'm so confused whether his strict gaps diet is good or bad for him.

Click to expand...

HydroxoB12 is rarely used in multi-vitamins - it's not the cheap version, or an active version. I get mine from a Dutch company, Bloem, but there might be more English-friendly sources as well. There are probably others here who are a lot more knowledgeable in this area, but I think it's generally good to be getting the other B vitamins as well when taking B12.

I'm not really familiar with GAPS, but as long it's got a good variety of proteins, fats, vitamins, and minerals, I can't imagine it would cause any problems.

@Harriet turner - Something else you can do is download http://sourceforge.net/projects/analyzemygenes/ and run his unzipped raw results (a text file) through it. It will show any rare mutations, and might turn up something useful - maybe even with regards to his Ectodermal Dysplasia, as that's a group of genetic disorders.

@Harriet turner - Something else you can do is download http://sourceforge.net/projects/analyzemygenes/ and run his unzipped raw results (a text file) through it. It will show any rare mutations, and might turn up something useful - maybe even with regards to his Ectodermal Dysplasia, as that's a group of genetic disorders.

Thank you for your reply. I haven't tried B12, mainly because gaps practitioner wasn't sure how well he would deal with B vitamins and because he has no B vitamins that are within the normal range and B12 wasn't the worst one. His most desperate needed B vits were B1 and B2, followed closely by B6, followed by B12 and B9 and then B7 and B3.

Glad to know which is the best B12 supplement to use though. Would you recommend trying this first? Or trying to find suitable ones that will help his other B vits? Is there one that suits a multi B vitamin? Is there anything I should avoid food wise or supplement wise? I'm so confused whether his strict gaps diet is good or bad for him.

Harriet

Click to expand...

Here's a sublingual (the best way to take B12, imo) hydroxoB12 that we use and are happy with. It takes about 30 minutes to dissolve under the tongue. You'd need to check dosage for a 6yo with autism. My guess is one tablet twice a week would be enough, but I'm not sure if high doses of B12 is recommended for autism.

Here's a sublingual (the best way to take B12, imo) hydroxoB12 that we use and are happy with. It takes about 30 minutes to dissolve under the tongue. You'd need to check dosage for a 6yo with autism. My guess is one tablet twice a week would be enough, but I'm not sure if high doses of B12 is recommended for autism.

The name of the gene for that SNP is listed below (often times the SNPs are between genes instead of on one): TRIO. Unfortunately the link there for TRIO doesn't have any info about its function, but genecards has some more data at http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIO . But there's no indication that this SNP causes any problems, and it's normal to have a some very rare results.

Are there any results from the gene analyzer program which start with "i" instead of "rs"? "i" can often indicate an allele known to cause problems, and some will do so even when just heterozygous.

Here's a sublingual (the best way to take B12, imo) hydroxoB12 that we use and are happy with. It takes about 30 minutes to dissolve under the tongue. You'd need to check dosage for a 6yo with autism. My guess is one tablet twice a week would be enough, but I'm not sure if high doses of B12 is recommended for autism.

The name of the gene for that SNP is listed below (often times the SNPs are between genes instead of on one): TRIO. Unfortunately the link there for TRIO doesn't have any info about its function, but genecards has some more data at http://www.genecards.org/cgi-bin/carddisp.pl?gene=TRIO . But there's no indication that this SNP causes any problems, and it's normal to have a some very rare results.

Are there any results from the gene analyzer program which start with "i" instead of "rs"? "i" can often indicate an allele known to cause problems, and some will do so even when just heterozygous.

Click to expand...

Attached Files:

i5012759 is rs77931234 and it's located on the ACADM gene. The G allele creates a pathogenic missense mutation. Typically this only causes problems when homozygous, but can also cause problems if heterozygous when there's another heterozygous pathogenic missense mutation on the same gene. When homozygous it results in Medium-chain acyl-CoA dehydrogenase deficiency - it doesn't always show up at birth, and symptoms can be triggered by metabolic stress.

rs11550605 is a missense mutation on the GSTT1 gene, which is involved in using glutathione for detoxification of certain substances. It looks like this mutation causes reduced activity, but it's not clear how much, or if being heterozygous has an impact.

i3002507 is rs1805009, and the C allele creates a "pathogenic" missense mutation on the TUBB3 gene. I'm afraid it may mean that your son is predisposed to being ... Ginger No idea why that one is marked as pathogenic, but it's always good for a laugh when it turns up!

I have had mine and my eldest sons results back and I ran them through genetic genie and your rare gene programme. me and Josh have i5012759 like Archie which you gave me great information about. Thank you.

I was wondering do you know anything about or where I can find info on: rs831627 homozygous (me) i5900756 and i3002507 (all mine). Or RS4926123 homozygous or i4001498 (Josh's)

i5012759 is rs77931234 and it's located on the ACADM gene. The G allele creates a pathogenic missense mutation. Typically this only causes problems when homozygous, but can also cause problems if heterozygous when there's another heterozygous pathogenic missense mutation on the same gene. When homozygous it results in Medium-chain acyl-CoA dehydrogenase deficiency - it doesn't always show up at birth, and symptoms can be triggered by metabolic stress.

rs11550605 is a missense mutation on the GSTT1 gene, which is involved in using glutathione for detoxification of certain substances. It looks like this mutation causes reduced activity, but it's not clear how much, or if being heterozygous has an impact.

i3002507 is rs1805009, and the C allele creates a "pathogenic" missense mutation on the TUBB3 gene. I'm afraid it may mean that your son is predisposed to being ... Ginger No idea why that one is marked as pathogenic, but it's always good for a laugh when it turns up!

Can anyone tell me what I need to look at first and where to go with my eldests sons results? He has MTHFR C677T AA plus many other mutations. I will post up his results underneath. My gaps practitioner can only help with MTHFR and I don't think this will help, as its not looking at the whole picture. I don't know how to tag people in the post? Thanks xx